LOC100334391

Ensembl ID:
ENSDARG00000074528
Human Orthologue:
PRTFDC1
Human Description:
phosphoribosyl transferase domain containing 1 [Source:HGNC Symbol;Acc:23333]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa821 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa821
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114700 Essential Splice Site 211 225 9 9
Genomic Location:
Chromosome 24 (position 6787962)
KASP Assay ID:
554-0725.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTCTGCTTTATTTATCACTTGACTCANNNNAGCGATGTGTTCCCCTTCAC[A/T]GCACATCTGCGTCATCAGTGAGACGGGGAAGCAGAAATATAAAGTGTGAC
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

Register

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* quick link - http://q.sanger.ac.uk/g9acut61